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News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… She is also on twitter . … As part of the Social and Behavioral Research Branch of NHGRI, the Engagement Methods … of dissemination of genomic knowledge, with a focus on behavioral conditions.  Given the wide range of methods for …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… are associated with breast and ovarian cancer risk, and conditions such as inherited heart rhythm problems. … diagnosis, researchers discover other treatable health conditions … Genomicists and clinicians are beginning to …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… researchers designed questions about 63 different genetic conditions. These included some well-known conditions, such as sickle cell anemia, cystic fibrosis and Marfan syndrome, as well as many rare genetic conditions. These conditions can show up in a variety of ways …
Educational Resources
Congenital conditions are those present from birth.
… Congenital … Congenital conditions are those present from birth. … Birth Defects, … to a condition or trait that exists at birth. Congenital conditions or traits may be hereditary or result from an … may be due to a combination of these factors. … Congenital conditions are those present from birth. … Educational …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism. Growth hormone …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… the effectiveness of bone marrow transplantation for these conditions. A major limitation to bone marrow transplantation …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… that can cause significant social, communication and behavioral challenges. Symptoms usually appear before the age … role. Autism is one of a group of related developmental conditions sometimes called the autism spectrum that affect …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… later in life. Treatment of autism involves medical and behavioral therapies to help children with conversational … should be used in conjunction with a family-centered, behavioral and educational program. … Scientists are not … for a milder condition that includes language, social or behavioral symptoms. Brothers have a higher risk (about 7 …